A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3372337



Internal ID19803315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:214547168..214547218hg38UCSC Ensembl
chr2:215411892..215411942hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14642299, nssv14638013, nssv14649717, nssv14635065, nssv14632950
SamplesNA12878, HG02818, HG01352, NA19434, HG00733
Known GenesVWC2L
MethodSequencing
AnalysisRead and contig alignments were done with BLASR. The Celera assembler (8.3rc2) was used to assemble RS II samples (CHM1, CHM13, HG00514, HG00733, NA19240, HG02818, NA19434, HG01352, HG02059, NA12878, and HG04217, and Canu (1.7) was used for Sequel samples (HG02106 and HG00268). Variant calling was performed with SMRT-SV (10.1101/gr.214007.116).
PlatformPacBio RS II P6C4, PacBio Sequel v2.1
Comments
ReferenceAudano_et_al_2019
Pubmed ID30661756
Accession Number(s)nsv3372337
Frequency
Sample Size14
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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